Canonical Allele Identifier: CA409636731

Gene: CHRNA4

Linked Data

• ClinVar Variation Id: 1006984
• ClinVar RCV Id: RCV001304106
• dbSNP Id: rs2068579848
• MyVariant Identifiers: chr20:g.61981973C>T (hg19) ; chr20:g.63350621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63350621C>T , CM000682.2:g.63350621C>T	GRCh38
NC_000020.10:g.61981973C>T , CM000682.1:g.61981973C>T	GRCh37
NC_000020.9:g.61452417C>T	NCBI36
NG_011931.1:g.15723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370263.9:c.790G>A MANE Select	ENSP00000359285.4:p.Val264Ile
ENST00000370263.8:c.790G>A	ENSP00000359285.4:p.Val264Ile
ENST00000463705.5:n.1438G>A
ENST00000467563.3:n.860G>A
ENST00000498043.6:c.814G>A
ENST00000615287.4:c.577G>A	ENSP00000483388.1:p.Val193Ile
ENST00000627000.1:c.*479G>A	ENSP00000486914.1:n.*479G>A
ENST00000630240.1:n.511G>A
NM_000744.6:c.790G>A	NP_000735.1:p.Val264Ile
NM_001256573.1:c.262G>A	NP_001243502.1:p.Val88Ile
NR_046317.1:n.1046G>A
XM_011528524.1:c.577G>A	XP_011526826.1:p.Val193Ile
XM_017027625.2:c.262G>A	XP_016883114.1:p.Val88Ile
XM_024451822.1:c.262G>A	XP_024307590.1:p.Val88Ile
NM_001256573.2:c.262G>A	NP_001243502.1:p.Val88Ile
NR_046317.2:n.999G>A
NM_000744.7:c.790G>A MANE Select	NP_000735.1:p.Val264Ile